Definition

Autosomal hereditary storage disease with too low production of the enzyme active lysosomal acid lipase.

Symptoms

• From the first year of life
  • Big belly
  • Indigestion
  • Lack of weight gain
  • Lack of growth
  • Yellow-colored skin
• Milder cases
  • Diagnosed among young adults
  • Heart disease
  • Liver failure
  • Stroke

Examinations

• Large liver and liver failure
• Anemia (low hemoglobin level)
• High cholesterol

Treatment

• Sebelipase alfa replaces lack of enzyme

Prevention

• Prenatal fetus diagnosis is possible
• Genetic counseling (25% risk of sibling getting sick)

Literature

• Wierzbicka-Rucińska A, 2016